Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469082 | SCV000547765 | uncertain significance | Fanconi anemia | 2022-07-26 | criteria provided, single submitter | clinical testing | This sequence change affects codon 27 of the FANCA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the FANCA protein. This variant is present in population databases (rs150247726, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with FANCA-related conditions. ClinVar contains an entry for this variant (Variation ID: 408190). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Institute for Clinical Genetics, |
RCV003237863 | SCV002010163 | uncertain significance | not provided | 2021-11-03 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001764407 | SCV002787137 | uncertain significance | Fanconi anemia complementation group A | 2022-03-09 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000469082 | SCV002093146 | uncertain significance | Fanconi anemia | 2019-10-28 | no assertion criteria provided | clinical testing |